Tuberous sclerosis diagnostic criteria
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There are no pathognomonic clinical signs for tuberous sclerosis. Many signs are present in individuals who are healthy (although rarely), or who have another disease. A combination of signs, classified as major or minor, is required in order to establish a clinical diagnosis.
Diagnosis is made according to the following criteria:
- Definite – Either two major features or one major feature plus two minor features.
- Probable – One major plus one minor feature.
- Suspect – Either one major feature or two or more minor features.
|Updated diagnostic criteria for tuberous sclerosis complex 2012|
|Major Features||Minor Features|
|Hypomelanotic macules (> or more at least 5mm diameter)||"Confetti" skin lesions|
|Angiofibromas (>3 or more) or fibrous cephalic plaque||Dental enamel pits (>3)|
|Ungual fibromas (>2 or more)||Intraoral fibromas (>2 or more)|
|Shagreen patch||Retinal achromic patch|
|Multiple retinal hamartomas||Multiple renal cysts|
|Cortical dysplasias**||Nonrenal hamartomas|
|Subependymal giant cell astrocytoma|
|Angiomyolipomas (>2 or more)|
- * A combination of the two major clinical features (lymphangioleiomyomatosis and angiomyolipomas) without other features does not meet criteria for a definite diagnosis.
- **Includes tubers and cerebral white matter radial migration lines.
- TSC1 or TSC2 pathogenic mutation is sufficient to make a definite diagnosis of TSC, but nowadays it is seem as mostly a corroborative testing.
- Northrup, Hope, et al. "Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference." Pediatric neurology 49.4 (2013): 243-254.